ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.84383G>A (p.Arg28128His)

gnomAD frequency: 0.00005  dbSNP: rs367596354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000469988 SCV000542616 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-05-03 criteria provided, single submitter clinical testing
GeneDx RCV001564325 SCV001787474 uncertain significance not provided 2024-06-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001564325 SCV003825435 uncertain significance not provided 2021-02-12 criteria provided, single submitter clinical testing

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